{"title":"Polysaccharide Storage Myopathy.","authors":"Anna M Firshman, Stephanie J Valberg","doi":"10.1016/j.cveq.2024.11.004","DOIUrl":null,"url":null,"abstract":"<p><p>Type 1 Polysaccharide Storage Myopathy (PSSM1) is an autosomal dominant glycogen storage disorder affecting more than 20 breeds of horses that can present with a variety of signs, including exertional rhabdomyolysis (ER). It is diagnosed by genetic testing or muscle biopsies containing muscle fibers with abnormal amylase-resistant polysaccharide. Type 2 PSSM has recently been subdivided. PSSM2-ER is a glycogen storage disorder identified in Quarter Horses that causes ER and is diagnosed by muscle biopsy as its genetic basis is unknown. Both PSSM1 and PSSM2-ER respond well to a low nonstructural carbohydrate, high fat diet combined with regular exercise. These forms of PSSM are discussed in this article.</p>","PeriodicalId":49382,"journal":{"name":"Veterinary Clinics of North America-Equine Practice","volume":" ","pages":""},"PeriodicalIF":1.1000,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Veterinary Clinics of North America-Equine Practice","FirstCategoryId":"97","ListUrlMain":"https://doi.org/10.1016/j.cveq.2024.11.004","RegionNum":3,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"VETERINARY SCIENCES","Score":null,"Total":0}
引用次数: 0
Abstract
Type 1 Polysaccharide Storage Myopathy (PSSM1) is an autosomal dominant glycogen storage disorder affecting more than 20 breeds of horses that can present with a variety of signs, including exertional rhabdomyolysis (ER). It is diagnosed by genetic testing or muscle biopsies containing muscle fibers with abnormal amylase-resistant polysaccharide. Type 2 PSSM has recently been subdivided. PSSM2-ER is a glycogen storage disorder identified in Quarter Horses that causes ER and is diagnosed by muscle biopsy as its genetic basis is unknown. Both PSSM1 and PSSM2-ER respond well to a low nonstructural carbohydrate, high fat diet combined with regular exercise. These forms of PSSM are discussed in this article.
期刊介绍：
Veterinary Clinics of North America: Equine Practice presents those in the veterinary medicine field with the most current treatment of horses, updates on the latest advances, and provides a sound basis for choosing treatment options. Published 3 times a year—in April, August, and December—each issue features expert, state-of-the-art reviews on a single topic in equine practice, including gastroenterology, imaging, infectious diseases, nutrition, orthopedics, pathology, pharmacology and therapeutics, and surgery.
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